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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-68054006-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68054006&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68054006,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001376219.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Lys452Asn",
"transcript": "NM_001277.3",
"protein_id": "NP_001268.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 457,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265689.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1356G>T",
"hgvs_p": "p.Lys452Asn",
"transcript": "ENST00000265689.9",
"protein_id": "ENSP00000265689.4",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 457,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265689.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Lys434Asn",
"transcript": "ENST00000356135.9",
"protein_id": "ENSP00000348454.4",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 439,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356135.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1500G>T",
"hgvs_p": "p.Lys500Asn",
"transcript": "ENST00000931669.1",
"protein_id": "ENSP00000601728.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 505,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931669.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1497G>T",
"hgvs_p": "p.Lys499Asn",
"transcript": "ENST00000868451.1",
"protein_id": "ENSP00000538510.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 504,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868451.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Lys462Asn",
"transcript": "NM_001376219.1",
"protein_id": "NP_001363148.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 467,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376219.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Lys462Asn",
"transcript": "ENST00000868450.1",
"protein_id": "ENSP00000538509.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 467,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868450.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1302G>T",
"hgvs_p": "p.Lys434Asn",
"transcript": "NM_212469.2",
"protein_id": "NP_997634.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 439,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212469.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1242G>T",
"hgvs_p": "p.Lys414Asn",
"transcript": "NM_001376220.1",
"protein_id": "NP_001363149.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 419,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376220.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1242G>T",
"hgvs_p": "p.Lys414Asn",
"transcript": "ENST00000868449.1",
"protein_id": "ENSP00000538508.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 419,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868449.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Lys396Asn",
"transcript": "ENST00000868452.1",
"protein_id": "ENSP00000538511.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 401,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868452.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.990G>T",
"hgvs_p": "p.Lys330Asn",
"transcript": "NM_001376221.1",
"protein_id": "NP_001363150.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 335,
"cds_start": 990,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376221.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "c.936G>T",
"hgvs_p": "p.Lys312Asn",
"transcript": "NM_001376222.1",
"protein_id": "NP_001363151.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 317,
"cds_start": 936,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "n.*215G>T",
"hgvs_p": null,
"transcript": "ENST00000525155.5",
"protein_id": "ENSP00000432631.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525155.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "n.168G>T",
"hgvs_p": null,
"transcript": "ENST00000533728.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000533728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "n.1798G>T",
"hgvs_p": null,
"transcript": "NR_164782.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_164782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"hgvs_c": "n.*215G>T",
"hgvs_p": null,
"transcript": "ENST00000525155.5",
"protein_id": "ENSP00000432631.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525155.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.*1059C>A",
"hgvs_p": null,
"transcript": "XM_047426240.1",
"protein_id": "XP_047282196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426240.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255031",
"gene_hgnc_id": null,
"hgvs_c": "n.*167C>A",
"hgvs_p": null,
"transcript": "ENST00000534517.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000534517.2"
}
],
"gene_symbol": "CHKA",
"gene_hgnc_id": 1937,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9138675928115845,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.647,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.306,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376219.1",
"gene_symbol": "CHKA",
"hgnc_id": 1937,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1386G>T",
"hgvs_p": "p.Lys462Asn"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534517.2",
"gene_symbol": "ENSG00000255031",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*167C>A",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047426240.1",
"gene_symbol": "TCIRG1",
"hgnc_id": 11647,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*1059C>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}